Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional protein involved in many cellular processes, but the mechanisms by which its dysfunction causes disease are not fully unde...

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Bibliographic Details

Published in:	Human Genomics
Main Authors:	Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong
Format:	Article
Language:	English
Published:	BMC 2023-09-01
Subjects:	Rett syndrome MECP2 duplication syndrome Rett-like phenotypes Multi-omics Transcriptomics Proteomics
Online Access:	https://doi.org/10.1186/s40246-023-00532-1